RGD:13502347 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:13502347 -  Homo sapiens

RGD ID: 13502347
RS ID: rs1553129378
ClinVar ID: CV448331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MUTYH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 45,798,638
GRCh38 1 45,332,966
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128425.1:c.463-7G>A
LRG_220t1:c.463-7G>A
LRG_220:g.12505G>A
NG_008189.1:g.12505G>A
More... 		02/10/2017 intron variant uncertain significance Adenomas, multiple colorectal; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; FAP type 2; MUTYH-associated polyposis; MUTYH-related attenuated familial adenomatous polyposis; MYH-associated polyposis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MUTYH
Accession:NM_001350651
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407072
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407088
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048171
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048173
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541503
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421203
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407087
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407089
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293192
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_017001333
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421204
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407081
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048172
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421193
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293190
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293191
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_017001332
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421191
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421202
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407078
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407085
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541502
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421201
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407082
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407086
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293196
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421192
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001128425
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293195
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541497
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421197
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407077
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407091
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001350650
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407070
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407079
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407083
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_012222
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048174
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421199
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407075
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421194
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407073
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407080
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421198
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407069
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407071
Location:INTRON

Gene Symbol:MUTYH
Accession:NR_176269
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_146883
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_146882
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_176272
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_176274
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_176273
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_176271
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000541915 CLINVAR
dbSNP (RS) rs1553129378 CLINVAR
MedGen C3272841 CLINVAR
NCBI Gene MUTYH CLINVAR
OMIM 604933 CLINVAR
  608456 CLINVAR